Variant report

Variant	nsv967683
Chromosome Location	chr4:128707527-128710207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128526261..128527082-chr4:128709454..128710321,2	MCF-7	breast:
2	chr4:128691903..128693530-chr4:128709934..128712766,2	K562	blood:
3	chr4:128702197..128705040-chr4:128708577..128711566,4	MCF-7	breast:
4	chr4:128708991..128711452-chr4:128712949..128715693,2	K562	blood:
5	chr4:128706259..128710771-chr4:128716445..128721111,5	MCF-7	breast:
6	chr4:128695663..128697275-chr4:128706487..128708747,2	K562	blood:

Variant related genes	Relation type
ENSG00000164070	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575493452	chr4:128707529-128707530	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536589221	chr4:128707574-128707575	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183921824	chr4:128707609-128707610	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188654661	chr4:128707643-128707644	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181265228	chr4:128707665-128707666	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113181526	chr4:128707670-128707671	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186833058	chr4:128707700-128707701	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566631474	chr4:128707703-128707704	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576889623	chr4:128707727-128707728	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112520366	chr4:128707803-128707804	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138652659	chr4:128707833-128707834	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530004562	chr4:128707886-128707887	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141170050	chr4:128707914-128707915	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561104040	chr4:128707952-128707953	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191613210	chr4:128707996-128707997	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546691968	chr4:128708001-128708002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571669009	chr4:128708096-128708097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538758503	chr4:128708112-128708113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550753185	chr4:128708136-128708137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536418369	chr4:128708166-128708167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569155474	chr4:128708169-128708170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536529375	chr4:128708202-128708203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72616951	chr4:128708209-128708210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568586711	chr4:128708250-128708251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573475826	chr4:128708293-128708294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112100588	chr4:128708313-128708314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79924092	chr4:128708352-128708353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537501657	chr4:128708405-128708406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558269310	chr4:128708530-128708531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150740035	chr4:128708587-128708588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs137995681	chr4:128708619-128708620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149498789	chr4:128708672-128708673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574712504	chr4:128708697-128708698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182201064	chr4:128708747-128708748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113636921	chr4:128708777-128708778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527611935	chr4:128708792-128708793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540582188	chr4:128708868-128708869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577486970	chr4:128708877-128708878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187397866	chr4:128708887-128708888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189799420	chr4:128708888-128708889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550690652	chr4:128708889-128708890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569096055	chr4:128708938-128708939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530955267	chr4:128708942-128708943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35308325	chr4:128708975-128708976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530200791	chr4:128708991-128708992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375112808	chr4:128709004-128709005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146000396	chr4:128709025-128709026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553665679	chr4:128709028-128709029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544315461	chr4:128709072-128709073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534231735	chr4:128709157-128709158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128705000-128718200	Weak transcription	Fetal Heart	heart
2	chr4:128705400-128731600	Weak transcription	Pancreas	Pancrea
3	chr4:128705600-128713400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:128706000-128707600	Weak transcription	Aorta	Aorta
5	chr4:128706000-128743600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:128706200-128759800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:128706400-128716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:128706400-128716600	Weak transcription	Hela-S3	cervix
9	chr4:128706400-128726200	Weak transcription	HMEC	breast
10	chr4:128706400-128729800	Weak transcription	NHEK	skin
11	chr4:128706400-128741600	Weak transcription	K562	blood
12	chr4:128706800-128707800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:128707000-128726800	Weak transcription	HepG2	liver
14	chr4:128707200-128708000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:128707200-128712800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:128707200-128716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:128707600-128708000	Enhancers	Aorta	Aorta
18	chr4:128707800-128709800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:128708000-128711000	Weak transcription	Aorta	Aorta
20	chr4:128708000-128716400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:128708800-128718400	Weak transcription	Psoas Muscle	Psoas
22	chr4:128709800-128710200	Enhancers	Stomach Mucosa	stomach
23	chr4:128709800-128710400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:128710200-128710600	Weak transcription	GM12878-XiMat	blood
25	chr4:128710200-128713400	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links